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Wyszukujesz frazę ""Al-Mutairi, Fuad"" wg kryterium: Autor


Tytuł :
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial
Autorzy :
Nashabat, Marwan
Obaid, Abdulrahman
Al Mutairi, Fuad
Saleh, Mohammed
Elamin, Mohammed
Ahmed, Hind
Ababneh, Faroug
Eyaid, Wafaa
Alswaid, Abdulrahman
Alohali, Lina
Faqeih, Eissa
Aljeraisy, Majed
Hussein, Mohamed A.
Alasmari, Ali
Alfadhel, Majid
Pokaż więcej
Źródło :
BMC Pediatrics. 19(1)
Czasopismo naukowe
Tytuł :
LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
Autorzy :
Beetz, Christian
Westenberger, Ana
Al‐Ali, Ruslan
Ameziane, Najim
Alhashmi, Nadia
Boustany, Rose‐Mary
Al Mutairi, Fuad
Alfadhel, Majid
Al‐Hassnan, Zuhair
AlSayed, Moenaldeen
Kandaswamy, Krishna K.
Paknia, Omid
Skrahina, Volha
Rolfs, Arndt
Bauer, Peter
Pokaż więcej
Źródło :
Movement Disorders; Apr2021, Vol. 36 Issue 4, p1029-1031, 3p
Czasopismo naukowe
Tytuł :
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
Autorzy :
Monies, Dorota
Abouelhoda, Mohamed
AlSayed, Moeenaldeen
Alhassnan, Zuhair
Alotaibi, Maha
Kayyali, Husam
Al-Owain, Mohammed
Shah, Ayaz
Rahbeeni, Zuhair
Al-Muhaizea, Mohammad A.
Alzaidan, Hamad I.
Cupler, Edward
Bohlega, Saeed
Faqeih, Eissa
Faden, Maha
Alyounes, Banan
Jaroudi, Dyala
Goljan, Ewa
Elbardisy, Hadeel
Akilan, Asma
Albar, Renad
Aldhalaan, Hesham
Gulab, Shamshad
Chedrawi, Aziza
Al Saud, Bandar K
Kurdi, Wesam
Makhseed, Nawal
Alqasim, Tahani
El Khashab, Heba Y.
Al-Mousa, Hamoud
Alhashem, Amal
Kanaan, Imaduddin
Algoufi, Talal
Alsaleem, Khalid
Basha, Talal A.
Al-Murshedi, Fathiya
Khan, Sameena
Al-Kindy, Adila
Alnemer, Maha
Al-Hajjar, Sami
Alyamani, Suad
Aldhekri, Hasan
Al-Mehaidib, Ali
Arnaout, Rand
Dabbagh, Omar
Shagrani, Mohammad
Broering, Dieter
Tulbah, Maha
Alqassmi, Amal
Almugbel, Maisoon
AlQuaiz, Mohammed
Alsaman, Abdulaziz
Al-Thihli, Khalid
Sulaiman, Raashda A.
Al-Dekhail, Wajeeh
Alsaegh, Abeer
Bashiri, Fahad A.
Qari, Alya
Alhomadi, Suzan
Alkuraya, Hisham
Alsebayel, Mohammed
Hamad, Muddathir H
Szonyi, Laszlo
Abaalkhail, Faisal
Al-Mayouf, Sulaiman M.
Almojalli, Hamad
Alqadi, Khalid S.
Elsiesy, Hussien
Shuaib, Taghreed M.
Seidahmed, Mohammed Zain
Abosoudah, Ibraheem
Akleh, Hana
AlGhonaium, Abdulaziz
Alkharfy, Turki M.
Al Mutairi, Fuad
Eyaid, Wafa
Alshanbary, Abdullah
Sheikh, Farrukh R.
Alsohaibani, Fahad I.
Alsonbul, Abdullah
Al Tala, Saeed
Balkhy, Soher
Bassiouni, Randa
Alenizi, Ahmed S.
Hussein, Maged H.
Hassan, Saeed
Khalil, Mohamed
Tabarki, Brahim
Alshahwan, Saad
Oshi, Amira
Sabr, Yasser
Alsaadoun, Saad
Salih, Mustafa A.
Mohamed, Sarar
Sultana, Habiba
Tamim, Abdullah
El-Haj, Moayad
Alshahrani, Saif
Bubshait, Dalal K.
Alfadhel, Majid
Faquih, Tariq
El-Kalioby, Mohamed
Subhani, Shazia
Shah, Zeeshan
Moghrabi, Nabil
Meyer, Brian F.
Alkuraya, Fowzan S.
Pokaż więcej
Źródło :
Human Genetics. August 2017 136(8):921-939
Czasopismo naukowe
Tytuł :
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.
Autorzy :
Alsubaie, Lamia
Alkhalaf, Randa
Aloraini, Taghrid
Amoudi, Manal
Swaid, Abdulrahman
Al Mutairi, Fuad
Alfadhel, Majid
Eyaid1, Wafaa
Sewairi, Wafaa
Alfares, Ahmed
Pokaż więcej
Temat :
PERIODIC peritonitis
MEDICAL genetics
GENE frequency
DATABASES
MEDICAL genomics
MEDICAL databases
Źródło :
Annals of Human Genetics; Sep2020, Vol. 84 Issue 5, p370-379, 10p
Czasopismo naukowe
Tytuł :
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Autorzy :
Monies, Dorota
Abouelhoda, Mohammed
Assoum, Mirna
Moghrabi, Nabil
Rafiullah, Rafiullah
Almontashiri, Naif
Alowain, Mohammed
Alzaidan, Hamad
Alsayed, Moeen
Subhani, Shazia
Cupler, Edward
Faden, Maha
Alhashem, Amal
Qari, Alya
Chedrawi, Aziza
Aldhalaan, Hisham
Kurdi, Wesam
Khan, Sameena
Rahbeeni, Zuhair
Alotaibi, Maha
Goljan, Ewa
Elbardisy, Hadeel
ElKalioby, Mohamed
Shah, Zeeshan
Alruwaili, Hibah
Jaafar, Amal
Albar, Ranad
Akilan, Asma
Tayeb, Hamsa
Tahir, Asma
Fawzy, Mohammed
Nasr, Mohammed
Makki, Shaza
Alfaifi, Abdullah
Akleh, Hanna
Yamani, Suad
Bubshait, Dalal
Mahnashi, Mohammed
Basha, Talal
Alsagheir, Afaf
Khaled, Musad Abu
Alsaleem, Khalid
Almugbel, Maisoon
Badawi, Manal
Bashiri, Fahad
Bohlega, Saeed
Sulaiman, Raashida
Tous, Ehab
Ahmed, Syed
Algoufi, Talal
Al-Mousa, Hamoud
Alaki, Emadia
Alhumaidi, Susan
Alghamdi, Hadeel
Alghamdi, Malak
Sahly, Ahmed
Nahrir, Shapar
Al-Ahmari, Ali
Alkuraya, Hisham
Almehaidib, Ali
Abanemai, Mohammed
Alsohaibaini, Fahad
Alsaud, Bandar
Arnaout, Rand
Abdel-Salam, Ghada M.H.
Aldhekri, Hasan
AlKhater, Suzan
Alqadi, Khalid
Alsabban, Essam
Alshareef, Turki
Awartani, Khalid
Banjar, Hanaa
Alsahan, Nada
Abosoudah, Ibraheem
Alashwal, Abdullah
Aldekhail, Wajeeh
Alhajjar, Sami
Al-Mayouf, Sulaiman
Alsemari, Abdulaziz
Alshuaibi, Walaa
Altala, Saeed
Altalhi, Abdulhadi
Baz, Salah
Hamad, Muddathir
Abalkhail, Tariq
Alenazi, Badi
Alkaff, Alya
Almohareb, Fahad
Al Mutairi, Fuad
Alsaleh, Mona
Alsonbul, Abdullah
Alzelaye, Somaya
Bahzad, Shakir
Manee, Abdulaziz Bin
Jarrad, Ola
Meriki, Neama
Albeirouti, Bassem
Alqasmi, Amal
AlBalwi, Mohammed
Makhseed, Nawal
Hassan, Saeed
Salih, Isam
Salih, Mustafa A.
Shaheen, Marwan
Sermin, Saadeh
Shahrukh, Shamsad
Hashmi, Shahrukh
Shawli, Ayman
Tajuddin, Ameen
Tamim, Abdullah
Alnahari, Ahmed
Ghemlas, Ibrahim
Hussein, Maged
Wali, Sami
Murad, Hatem
Meyer, Brian F.
Alkuraya, Fowzan S.
Pokaż więcej
Temat :
Correction
Tytuł :
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
Autorzy :
Devaux, Jérôme
Efthymiou, Stephanie
Salpietro, Vincenzo
Malintan, Nancy
Poncelet, Mallory
Kriouile, Yamna
Fortuna, Sara
De Zorzi, Rita
Payne, Katelyn
Henderson, Lindsay
Cortese, Andrea
Maddirevula, Sateesh
Alhashmi, Nadia
Wiethoff, Sarah
Ryten, Mina
Botia, Juan
Provitera, Vincenzo
Schuelke, Markus
Vandrovcova, Jana
Groppa, Stanislav
Karashova, Blagovesta Marinova
Nachbauer, Wolfgang
Boesch, Sylvia
Arning, Larissa
Timmann, Dagmar
Cormand, Bru
Pérez-Dueñas, Belen
Goraya, Jatinder
Sultan, Tipu
Mine, Jun
Avdjieva, Daniela
Kathom, Hadil
Tincheva, Radka
Banu, Selina
Pineda-Marfa, Mercedes
Veggiotti, Pierangelo
Ferrari, Michel
Van Den Maagdenberg, Arn
Verrotti, Alberto
Marseglia, Giangluigi
Savasta, Salvatore
García-Silva, Mayte
Ruiz, Alfons Macaya
Garavaglia, Barbara
Portaro, Simona
Sanchez, Benigno Monteagudo
Boles, Richard
Papacostas, Savvas
Vikelis, Michail
Rothman, James
Kullmann, Dimitri
Papanicolaou, Eleni Zamba
Dardiotis, Efthymios
Maqbool, Shazia
Ibrahim, Shahnaz
Kirmani, Salman
Rana, Nuzhat Noureen
Atawneh, Osama
Lim, Shen-Yang
Shaikh, Farooq
Koutsis, George
Breza, Marianthi
Mangano, Salvatore
Scuderi, Carmela
Borgione, Eugenia
Morello, Giovanna
Stojkovic, Tanya
Zollo, Massimo
Heimer, Gali
Dauvilliers, Yves
Minetti, Carlo
Al-Khawaja, Issam
Al-Mutairi, Fuad
Hamed, Sherifa
Pipis, Menelaos
Bettencourt, Conceição
Rinaldi, Simon
Walsh, Laurence
Torti, Erin
Iodice, Valeria
Najafi, Maryam
Karimiani, Ehsan Ghayoor
Maroofian, Reza
Siquier-Pernet, Karine
Boddaert, Nathalie
De Lonlay, Pascale
Cantagrel, Vincent
Aguennouz, Mhammed
El Khorassani, Mohamed
Schmidts, Miriam
Alkuraya, Fowzan
Edvardson, Simon
Nolano, Maria
Devaux, Jerôme
Houlden, Henry
Pokaż więcej
Temat :
[SDV]Life Sciences [q-bio]
[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology
[SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology
[SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Źródło :
Brain - A Journal of Neurology
Brain - A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩
Tytuł :
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
Autorzy :
Devaux, Jérôme
Efthymiou, Stephanie
Salpietro, Vincenzo
Malintan, Nancy
Poncelet, Mallory
Kriouile, Yamna
Fortuna, Sara
De Zorzi, Rita
Payne, Katelyn
Henderson, Lindsay
Cortese, Andrea
Maddirevula, Sateesh
Alhashmi, Nadia
Wiethoff, Sarah
Ryten, Mina
Botia, Juan
Provitera, Vincenzo
Schuelke, Markus
Vandrovcova, Jana
Groppa, Stanislav
Karashova, Blagovesta Marinova
Nachbauer, Wolfgang
Boesch, Sylvia
Arning, Larissa
Timmann, Dagmar
Cormand, Bru
Pérez-Dueñas, Belen
Goraya, Jatinder
Sultan, Tipu
Mine, Jun
Avdjieva, Daniela
Kathom, Hadil
Tincheva, Radka
Banu, Selina
Pineda-Marfa, Mercedes
Veggiotti, Pierangelo
Ferrari, Michel
Van Den Maagdenberg, Arn
Verrotti, Alberto
Marseglia, Giangluigi
Savasta, Salvatore
García-Silva, Mayte
Ruiz, Alfons Macaya
Garavaglia, Barbara
Portaro, Simona
Sanchez, Benigno Monteagudo
Boles, Richard
Papacostas, Savvas
Vikelis, Michail
Rothman, James
Kullmann, Dimitri
Papanicolaou, Eleni Zamba
Dardiotis, Efthymios
Maqbool, Shazia
Ibrahim, Shahnaz
Kirmani, Salman
Rana, Nuzhat Noureen
Atawneh, Osama
Lim, Shen-Yang
Shaikh, Farooq
Koutsis, George
Breza, Marianthi
Mangano, Salvatore
Scuderi, Carmela
Borgione, Eugenia
Morello, Giovanna
Stojkovic, Tanya
Zollo, Massimo
Heimer, Gali
Dauvilliers, Yves
Minetti, Carlo
Al-Khawaja, Issam
Al-Mutairi, Fuad
Hamed, Sherifa
Pipis, Menelaos
Bettencourt, Conceição
Rinaldi, Simon
Walsh, Laurence
Torti, Erin
Iodice, Valeria
Najafi, Maryam
Karimiani, Ehsan Ghayoor
Maroofian, Reza
Siquier-Pernet, Karine
Boddaert, Nathalie
De Lonlay, Pascale
Cantagrel, Vincent
Aguennouz, Mhammed
El Khorassani, Mohamed
Schmidts, Miriam
Alkuraya, Fowzan
Edvardson, Simon
Nolano, Maria
Devaux, Jerôme
Houlden, Henry
Pokaż więcej
Temat :
[SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology
[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology
[SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
[SDV]Life Sciences [q-bio]
ComputingMilieux_MISCELLANEOUS
Źródło :
Brain - A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (10), pp.2948-2964. ⟨10.1093/brain/awz248⟩
Brain - A Journal of Neurology
Tytuł :
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial
Autorzy :
Alfadhel, Majid
Nashabat, Marwan
Obaid, Abdulrahman
Al Mutairi, Fuad
Saleh, Mohammed
Elamin, Mohammed
Ahmed, Hind
Ababneh, Faroug
Eyaid, Wafaa
Alswaid, Abdulrahman
Alohali, Lina
Faqeih, Eissa
Aljeraisy, Majed
Hussein, Mohamed A.
Alasmari, Ali
Pokaż więcej
Temat :
Carbaglu®
Propionic acidemia
RJ1-570
Pediatrics
Hyperammonemia
Carglumic acid
Methylmalonic acidemia
Study Protocol
Źródło :
BMC Pediatrics, Vol 19, Iss 1, Pp 1-9 (2019)
Tytuł :
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Autorzy :
Monies, Dorota
Abouelhoda, Mohammed
Assoum, Mirna
Moghrabi, Nabil
Rafiullah, Rafiullah
Almontashiri, Naif
Alowain, Mohammed
Alzaidan, Hamad
Alsayed, Moeen
Subhani, Shazia
Cupler, Edward
Faden, Maha
Alhashem, Amal
Qari, Alya
Chedrawi, Aziza
Aldhalaan, Hisham
Kurdi, Wesam
Khan, Sameena
Rahbeeni, Zuhair
Alotaibi, Maha
Goljan, Ewa
Elbardisy, Hadeel
ElKalioby, Mohamed
Shah, Zeeshan
Alruwaili, Hibah
Jaafar, Amal
Albar, Ranad
Akilan, Asma
Tayeb, Hamsa
Tahir, Asma
Fawzy, Mohammed
Nasr, Mohammed
Makki, Shaza
Alfaifi, Abdullah
Akleh, Hanna
Yamani, Suad
Bubshait, Dalal
Mahnashi, Mohammed
Basha, Talal
Alsagheir, Afaf
Abu Khaled, Musad
Alsaleem, Khalid
Almugbel, Maisoon
Badawi, Manal
Bashiri, Fahad
Bohlega, Saeed
Sulaiman, Raashida
Tous, Ehab
Ahmed, Syed
Algoufi, Talal
Al-Mousa, Hamoud
Alaki, Emadia
Alhumaidi, Susan
Althagafi, Malak
Alghamdi, Hadeel
Alghamdi, Malak
Sahly, Ahmed
Nahrir, Shapar
Al-Ahmari, Ali
Alkuraya, Hisham
Almehaidib, Ali
Abanemai, Mohammed
Alsohaibaini, Fahad
Alsaud, Bandar
Arnaout, Rand
Abdel-Salam, Ghada M.H.
Aldhekri, Hasan
AlKhater, Suzan
Alqadi, Khalid
Alsabban, Essam
Alshareef, Turki
Awartani, Khalid
Banjar, Hanaa
Alsahan, Nada
Abosoudah, Ibraheem
Alashwal, Abdullah
Aldekhail, Wajeeh
Alhajjar, Sami
Al-Mayouf, Sulaiman
Alsemari, Abdulaziz
Alshuaibi, Walaa
Altala, Saeed
Altalhi, Abdulhadi
Baz, Salah
Hamad, Muddathir
Abalkhail, Tariq
Alenazi, Badi
Alkaff, Alya
Almohareb, Fahad
Al Mutairi, Fuad
Alsaleh, Mona
Alsonbul, Abdullah
Alzelaye, Somaya
Bahzad, Shakir
Manee, Abdulaziz Bin
Jarrad, Ola
Meriki, Neama
Albeirouti, Bassem
Alqasmi, Amal
AlBalwi, Mohammed
Makhseed, Nawal
Hassan, Saeed
Salih, Isam
Salih, Mustafa A.
Shaheen, Marwan
Sermin, Saadeh
Shahrukh, Shamsad
Hashmi, Shahrukh
Shawli, Ayman
Tajuddin, Ameen
Tamim, Abdullah
Alnahari, Ahmed
Ghemlas, Ibrahim
Hussein, Maged
Wali, Sami
Murad, Hatem
Meyer, Brian F.
Alkuraya, Fowzan S.
Pokaż więcej
Temat :
Article

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